HsaINT0042201 @ hg38
Intron Retention
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33541130-33542896:-
Coord C1 exon
chr1:33542720-33542896
Coord A exon
chr1:33541310-33542719
Coord C2 exon
chr1:33541130-33541309
Length
1410 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGA
5' ss Score
8.51
3' ss Seq
CTATATCTCTCTTATCCTAGTCA
3' ss Score
5.69
Exon sequences
Seq C1 exon
TGATCTCTTGTGGGAACCCTGGGACTCCAAGTAATGCCCGAGTTGTGTTCAGTGATGGCCTGGTTTTCTCCAGCTCTATCGTCTATGAGTGCCGGGAAGGATACTACGCCACAGGCCTGCTCAGCCGTCACTGCTCGGTCAATGGTACCTGGACAGGCAGTGACCCTGAGTGCCTCG
Seq A exon
GTGAGAGCTCAGGCCCTACGGGTTCCATGGCCAACAGTGGCCCAGATCCTGCATGCCAGAGGAGAAGGCTATCCATGGAAGATGGTGCAGAATGGTTGGGATGGTCGGACTTGAACCTGAACGATAATCATATGAATAGCCTCTGTTGAGCATATGCTATGTGGCAGCCACTGAGCGAAGTACTTTATTTCATATGCACATTTCATTTGATCTTCACCATAACTCCGTAACTCCGTGAAGTAGCTACTATTATCCCCATTTTGTATATGAGATGGCTGAGGCTCAGAGAGGCAGAGAATATATGTTGGCCATTTCTCAGGCTCTAGCCAATTCCTTGGGCTTTCCCTTTTATCTCTTAGAATCAAACCCCAGAGCTCAACCTGATTCTCTTTTCACTTCAAAGATGCAGCTATCTGCCATCTTTGTTGCTTCGTTCTGTCCTTGTACCCGACCCCACCCAGTACGGGTTCCTGAGCACGGTGTAGCCTCACAGCTCCAATTTCTTGCTTCTCTCAAGGGTAGTCCCAGTTCTTTTCTGGGAAAAGTGAGTCACTGTGGGATCCAGATGGAGGGAAGAGATAGGATGAGGAAATGTGACAAGATTCTCCCTGTCAAAGTCCTAGTCTGTGATTTCGACTCCCTCTGAAATCCCGTGTCAAGTTCACTTTGGTTTTGAGACCAGAGCTCACCAAGCCCCACCCTCAATGATATGATGACATAGGCATGACCCTTTCATGGGCCATAAGACCCTGCTTCCAGGCTGTTGTCCCTAGGAGTCCTGTGTAGGTGCTGTTGGGCCTACAGAGGCCTCGTAGGTACAACAGCAGGTGATAAGATGTACCCCTCAGCAGACAAATCAATTGTCTCATGTGGTTCATTAATATACCTTAGGTTCTTCAAACAGAAAACTCCCTTTCCCTGGGTCCTAGCCTCATTTAGGAACTGAGCCCTCTGGATACTTCCTCTTAGAGGGGGCACTTTGAATAAGGTGAATCTTCATAGCCCAAGTTGCAGCGGTGCATAAGGACAGTGTGGGCAAGGACAGGACTGATGCCAGGGATTTGACAAAACAAAATTTAAAATGGGCAAGCTGGGTGTGGTGGCTCATGCCTGTAGTCCCAGCTACTCAGAAGGCTGAGGTGGGAGGATTGCATGAGCCCAGGAGTTCGAGGCTGCAGTGAGCCATGACTGTGCCTCTGCACTCCAGCCTGGGTGACAGAGTAAGACCCTGACTTAAAAAAAAAGAAATTTAGAATGGGTAATGTCCAACTGGGATCCTGTGAGGAGACAGGGCATCCCTGATCTGACAGTTTCCCTTCTTGGATGCATGCAGGGAGTGATAGGGATGGTATTGGAGGAGAAGTGGGGTCCTGGCCAGGAGTGAACAATGCTATATCTCTCTTATCCTAG
Seq C2 exon
TCATAAACTGTGGTGACCCTGGGATTCCAGCCAATGGCCTTCGGCTGGGCAATGACTTCAGGTACAACAAAACTGTGACATATCAGTGTGTCCCTGGCTATATGATGGAGTCACATAGAGTATCTGTGCTGAGCTGCACCAAGGACCGGACATGGAATGGAACCAAGCCCGTCTGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904:ENST00000241312:57
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=91.7)
A:
NA
C2:
PF0008415=Sushi=WD(100=91.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAACCCTGGGACTCCAAGTA
R:
CTTTGCAGACGGGCTTGGTTC
Band lengths:
345-1755
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development